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Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.
Dohrn MF, Beijer D, Lone MA, Bayraktar E, Oflazer P, Orbach R, Donkervoort S, Foley AR, Rose A, Lyons M, Louie RJ, Gable K, Dunn T, Chen S, Danzi MC, Synofzik M, Bönnemann CG, Nazlı Başak A, Hornemann T, Zuchner S. Dohrn MF, et al. Among authors: nazli basak a. J Neurol Neurosurg Psychiatry. 2024 Feb 14;95(3):201-205. doi: 10.1136/jnnp-2023-332130. J Neurol Neurosurg Psychiatry. 2024. PMID: 38041684 Free PMC article.
Vestibulo-ocular reflex impairment in SPG7 hereditary spastic paraplegia.
Akdal G, Koçoğlu K, Koçoğlu C, Bora E, Nazlı Başak A, Michael Halmágyi G. Akdal G, et al. Among authors: nazli basak a. Clin Neurophysiol. 2021 Jan;132(1):77-79. doi: 10.1016/j.clinph.2020.10.012. Epub 2020 Nov 4. Clin Neurophysiol. 2021. PMID: 33248435 No abstract available.
Characterization of the c9orf72 GC-rich low complexity sequence in two cohorts of Italian and Turkish ALS cases.
Corrado L, Tiloca C, Locci C, Bagarotti A, Hamzeiy H, Colombrita C, De Marchi F, Barizzone N, Cotella D, Ticozzi N, Mazzini L, Nazli Basak A, Ratti A, Silani V, D'alfonso S. Corrado L, et al. Among authors: nazli basak a. Amyotroph Lateral Scler Frontotemporal Degener. 2018 Aug;19(5-6):426-431. doi: 10.1080/21678421.2018.1440407. Epub 2018 Feb 28. Amyotroph Lateral Scler Frontotemporal Degener. 2018. PMID: 29490503
Reconsidering the causality of TIA1 mutations in ALS.
van der Spek RA, van Rheenen W, Pulit SL, Kenna KP, Ticozzi N, Kooyman M, Mclaughlin RL, Moisse M, van Eijk KR, van Vugt JJFA, Iacoangeli A, Andersen P, Nazli Basak A, Blair I, de Carvalho M, Chio A, Corcia P, Couratier P, Drory VE, Glass JD, Hardiman O, Mora JS, Morrison KE, Mitne-Neto M, Robberecht W, Shaw PJ, Panadés MP, van Damme P, Silani V, Gotkine M, Weber M, van Es MA, Landers JE, Al-Chalabi A, van den Berg LH, Veldink JH; PROJECT MINE ALS SEQUENCING CONSORTIUM. van der Spek RA, et al. Among authors: nazli basak a. Amyotroph Lateral Scler Frontotemporal Degener. 2018 Feb;19(1-2):1-3. doi: 10.1080/21678421.2017.1413118. Epub 2017 Dec 13. Amyotroph Lateral Scler Frontotemporal Degener. 2018. PMID: 29235362 Free PMC article. No abstract available.